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234632005: Immunodeficiency associated with chromosomal abnormality (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
351567012 Immunodeficiency associated with chromosomal abnormality en Synonym Active Entire term case insensitive SNOMED CT core module
622978015 Immunodeficiency associated with chromosomal abnormality (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Immunodeficiency associated with chromosomal abnormality Is a Immunodeficiency with major anomalies false Inferred relationship Existential restriction modifier
Immunodeficiency associated with chromosomal abnormality Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Immunodeficiency associated with chromosomal abnormality Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier
Immunodeficiency associated with chromosomal abnormality Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Immunodeficiency associated with chromosomal abnormality Associated with Chromosomal disorder true Inferred relationship Existential restriction modifier 1
Immunodeficiency associated with chromosomal abnormality Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Chromosome 18 syndromes and antibody deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Chromosome 22 abnormalities with hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Deletion of X-chromosome and hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Microcephaly, normal intelligence and immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Triple X syndrome, epilepsy, and hypogammaglobulinemia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
18-p syndrome with associated immunodeficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Bloom syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Ataxia-telangiectasia syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Primary immunodeficiency syndrome due to p14 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
X-linked mendelian susceptibility to mycobacterial disease Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome with recurrent viral infection Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Immunodeficiency due to mutation of FAS-associated protein with death domain gene Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Neutrophil immunodeficiency syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
RAS-associated autoimmune leukoproliferative disease Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia with immune deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Sporadic Blau syndrome Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Idiopathic CD4 lymphocytopenia Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Immunodeficiency due to ficolin 3 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Combined immunodeficiency due to OX40 deficiency Is a True Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a False Immunodeficiency associated with chromosomal abnormality Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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